ウィルムス腫瘍

腫瘍性疾患

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Type	Name	Gene Symbol	Clinical Significance	Chromosome	Start	Stop	Reference Allele	Alternate Allele	Review Status	Other IDs
Type	Name	Gene Symbol	Clinical Significance	Chromosome	(GRCh37)		Reference Allele	Alternate Allele	Review Status	Other IDs
Insertion	NM_000059.4(BRCA2):c.8434_8435insC (p.Gly2812fs)	BRCA2	Pathogenic	13	32944641	32944642	G	GC	reviewed by expert panel	ClinGen:CA10589496
Deletion	NM_000059.4(BRCA2):c.8438del (p.Gly2813fs)	BRCA2	Pathogenic	13	32944644	32944644	AG	A	reviewed by expert panel	ClinGen:CA10589497
Duplication	NM_000059.4(BRCA2):c.8466dup (p.Gln2823fs)	BRCA2	Pathogenic	13	32944671	32944672	A	AT	reviewed by expert panel	ClinGen:CA10589498
single nucleotide variant	NM_000059.4(BRCA2):c.8470A>T (p.Arg2824Ter)	BRCA2	Pathogenic	13	32944677	32944677	A	T	reviewed by expert panel	ClinGen:CA10589499
single nucleotide variant	NM_000059.4(BRCA2):c.8478C>G (p.Tyr2826Ter)	BRCA2	Pathogenic	13	32944685	32944685	C	G	reviewed by expert panel	ClinGen:CA10589500
single nucleotide variant	NM_000059.4(BRCA2):c.8504C>G (p.Ser2835Ter)	BRCA2	Pathogenic	13	32945109	32945109	C	G	reviewed by expert panel	ClinGen:CA10589501
single nucleotide variant	NM_000059.4(BRCA2):c.8513T>A (p.Leu2838Ter)	BRCA2	Pathogenic	13	32945118	32945118	T	A	reviewed by expert panel	ClinGen:CA10589502
single nucleotide variant	NM_000059.4(BRCA2):c.8513T>G (p.Leu2838Ter)	BRCA2	Pathogenic	13	32945118	32945118	T	G	reviewed by expert panel	ClinGen:CA10589503
single nucleotide variant	NM_000059.4(BRCA2):c.8517C>A (p.Tyr2839Ter)	BRCA2	Pathogenic	13	32945122	32945122	C	A	reviewed by expert panel	ClinGen:CA10589504
Deletion	NM_000059.4(BRCA2):c.8518del (p.Ile2840fs)	BRCA2	Pathogenic	13	32945123	32945123	CA	C	reviewed by expert panel	ClinGen:CA10589505